Charlotte Sumner MD
Professor of Neurology and Neuroscience
Professor of Neurology and Neuroscience
Ramos D, d’Ydewalle C, Valdivia D, Hatem CL, Gabbeta V, Dakka A, Taylor SJ, Zaworski PG, Swoboda KJ, Prior TW, Snyder PJ, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ. Age dependent SMN expression in disease relevant tissue and implications for SMA treatment. Journal of Clinical Investigation, 2019, In press.
Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano E, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrilo M, Stebbins C, Fradette S, Farwell W, Sumner CJ. Phosphorylated neurofilament heavy chain plasma levels in infants with SMA: analyses from the ENDEAR study. Annals of Clinical and Translational Neurology, 2019;6:932-944.
Scherer PC, Zaccor NW, Neumann N, Vasavda C, Barrow R, Ewald A, Rao F, Sumner CJ, Synder SH. TRPV1 is a physiological regulator of mu-opioid receptors. Proceedings of the National Academy of Sciences 2017; 114(51):13561-13566.
D’Ydewalle C, Ramos DM, Pyles NJ, Ng SY, Gorz M, Pilato CM, Ling K, Kong L, Ward AJ, Rubin LL, Rigo F, Bennett CF, Sumner CJ. The antisense transcript SMN-AS1 regulates SMN expression and is a novel therapeutic target for spinal muscular atrophy. Neuron 2017;93:66-79.
Sullivan J, Zimanyi CM, Aisenberg W, Bears B, Chen D-H, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ. Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurol Genet 2015;1:e29.
Sumner CJ, d’Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, and Houlden H. Dominant mutation of FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet 2013;93:976-983.
Martinez TL, Kong L, Wang X, Osborne MA, Crowder ME, Van Meerbeke JP, Xu X, Davis C, Wooley J, Goldhamer DJ, Lutz CM, Rich MM, Sumner CJ. SMN in motor neurons determines synaptic integrity in spinal
Mentis GZ, Liu W, Blivis D, Drobac E, Crowder ME, Kong L, Alvarez FJ, Sumner CJ, O’Donovan MJ. Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron 2011; 1):453-467.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics 2010;42:170-4.
Avila AM, Burnett BB, Taye AA, Gabenella F, Knight M, Hartenstein P, Cizman Z, DiProspero NA, Fischbeck KH, Sumner CJ. Trichostatin A increases SMN expression and survival in spinal muscular atrophy mice. Journal Clinical Investigation 2007;117:659-71.